Canonical Allele Identifier: CA16602466

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 375992
• ClinVar RCV Id: RCV000418272 ; RCV000427352 ; RCV000437580 ; RCV000438329 ; RCV000443774
• dbSNP Id: rs121913468
• COSMIC: COSM1251412 ; COSM5219941
• MyVariant Identifiers: chr17:g.37880261G>T (hg19) ; chr17:g.39724008G>T (hg38)
• CIViC: CA16602466
• PubMed: PMID:16397024 ; PMID:23220880 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724008G>T , CM000679.2:g.39724008G>T	GRCh38
NC_000017.10:g.37880261G>T , CM000679.1:g.37880261G>T	GRCh37
NC_000017.9:g.35133787G>T	NCBI36
NG_007503.1:g.40869G>T , LRG_724:g.40869G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2305G>T MANE Select	ENSP00000269571.4:p.Asp769Tyr
ENST00000269571.9:c.2305G>T	ENSP00000269571.4:p.Asp769Tyr
ENST00000406381.6:c.2215G>T	ENSP00000385185.2:p.Asp739Tyr
ENST00000445658.6:c.1477G>T	ENSP00000404047.2:p.Asp493Tyr
ENST00000541774.5:c.2260G>T	ENSP00000446466.1:p.Asp754Tyr
ENST00000578373.5:c.*2095G>T	ENSP00000463427.1:n.*2095G>T
ENST00000580074.1:c.411G>T
ENST00000583038.5:n.3439G>T
ENST00000584450.5:c.2305G>T	ENSP00000463714.1:p.Asp769Tyr
ENST00000584601.5:c.2215G>T	ENSP00000462438.1:p.Asp739Tyr
NM_001005862.2:c.2215G>T , LRG_724t1:c.2215G>T	NP_001005862.1:p.Asp739Tyr
NM_001289936.1:c.2260G>T , LRG_724t4:c.2260G>T	NP_001276865.1:p.Asp754Tyr
NM_001289937.1:c.2305G>T	NP_001276866.1:p.Asp769Tyr
NM_004448.3:c.2305G>T , LRG_724t2:c.2305G>T	NP_004439.2:p.Asp769Tyr
NR_110535.1:n.2629G>T
XM_024450641.1:c.2443G>T	XP_024306409.1:p.Asp815Tyr
XM_024450642.1:c.2398G>T	XP_024306410.1:p.Asp800Tyr
XM_024450643.1:c.2353G>T	XP_024306411.1:p.Asp785Tyr
NM_001005862.3:c.2215G>T	NP_001005862.1:p.Asp739Tyr
NM_001289936.2:c.2260G>T	NP_001276865.1:p.Asp754Tyr
NM_001289937.2:c.2305G>T	NP_001276866.1:p.Asp769Tyr
NM_001382782.1:c.2215G>T	NP_001369711.1:p.Asp739Tyr
NM_001382783.1:c.2215G>T	NP_001369712.1:p.Asp739Tyr
NM_001382784.1:c.2422G>T	NP_001369713.1:p.Asp808Tyr
NM_001382785.1:c.2407G>T	NP_001369714.1:p.Asp803Tyr
NM_001382786.1:c.2386G>T	NP_001369715.1:p.Asp796Tyr
NM_001382787.1:c.2380G>T	NP_001369716.1:p.Asp794Tyr
NM_001382788.1:c.2335G>T	NP_001369717.1:p.Asp779Tyr
NM_001382789.1:c.2326G>T	NP_001369718.1:p.Asp776Tyr
NM_001382790.1:c.2302G>T	NP_001369719.1:p.Asp768Tyr
NM_001382791.1:c.2296G>T	NP_001369720.1:p.Asp766Tyr
NM_001382792.1:c.2269G>T	NP_001369721.1:p.Asp757Tyr
NM_001382793.1:c.2263G>T	NP_001369722.1:p.Asp755Tyr
NM_001382794.1:c.2263G>T	NP_001369723.1:p.Asp755Tyr
NM_001382795.1:c.2257G>T	NP_001369724.1:p.Asp753Tyr
NM_001382796.1:c.2305G>T	NP_001369725.1:p.Asp769Tyr
NM_001382797.1:c.2208+348G>T	NP_001369726.1:n.2208+348G>T
NM_001382798.1:c.2305G>T	NP_001369727.1:p.Asp769Tyr
NM_001382799.1:c.2125G>T	NP_001369728.1:p.Asp709Tyr
NM_001382800.1:c.2305G>T	NP_001369729.1:p.Asp769Tyr
NM_001382801.1:c.2257G>T	NP_001369730.1:p.Asp753Tyr
NM_001382802.1:c.2047G>T	NP_001369731.1:p.Asp683Tyr
NM_001382803.1:c.2263G>T	NP_001369732.1:p.Asp755Tyr
NM_001382804.1:c.1477G>T	NP_001369733.1:p.Asp493Tyr
NM_001382805.1:c.2208+348G>T	NP_001369734.1:n.2208+348G>T
NM_001382806.1:c.1267G>T	NP_001369735.1:p.Asp423Tyr
NM_004448.4:c.2305G>T MANE Select	NP_004439.2:p.Asp769Tyr
NR_110535.2:n.2543G>T